Association of a 31 bp VNTR in the CBS gene with postload homocysteine concentrations in the Framingham Offspring Study.
until further notice
SourceEuropean Journal of Human Genetics, 14, 10, (2006), pp. 1125-1129
Article / Letter to editor
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European Journal of Human Genetics
SubjectIGMD 3: Genomic disorders and inherited multi-system disorders; NCEBP 14: Cardiovascular diseases; NCMLS 4: Energy and redox metabolism; UMCN 2.2: Vascular medicine and diabetes
Elevated total plasma homocysteine concentrations (tHcy), both fasting and post-methionine load, have been established as risk factors for vascular disease. Recently, we described the association of a 31 bp variable number of tandem repeats (VNTR) in the cystathionine beta-synthase (CBS) gene with both CBS enzyme activity and tHcy concentrations. In the present study, we determined the 31 bp VNTR genotypes in 2598 individuals of the Framingham Offspring Study and studied the association between this genotype and fasting, 2-h post-methionine load and delta (ie increase upon methionine loading) tHcy concentrations in 1416 subjects. We observed a positive association between the number of repeat units of the CBS 31 bp VNTR and both postload and delta tHcy concentrations. Adjustment for possible effect modifying factors like age, sex and vitamin (B6, B12 and folate) status did not change this observation. We hereby confirm the results of our earlier study, in which we found that this 31 bp VNTR is a genetic determinant of post-methionine load tHcy concentrations. Since also post-methionine load tHcy concentrations are found to be associated with an increased risk for cardiovascular disease (CVD), this 31 bp VNTR may be considered a risk factor for CVD.
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